Sequence and Phenotype Integration Exchange
(SPHINX) is a web-based tool for exploring data for hypothesis generation, especially around drug
response implications of genetic variation across the eMERGE Network.

The eMERGE-PGx project was a multi-center
pilot of implementing pharmacogenetic sequencing in clinical practice to improve health care. SPHINX is
a searchable catalog of observed inherited variants in a 24,755 subject
population, large enough to reflect even rare variation. The participants’ constitutional DNA was
sequenced using the PGRNseq assay, a targeted megabase of sequence in 82 PGx genes, genes identified as
important for pharmcogenomics.

The eMERGEseq project was one of
the major aims of the eMERGE Network during Phase III. It is aimed to
identify rare variants with presumed major impact on function in a cohort of 25,000 participants across
the Network. The Network created an eMERGE specific sequencing platform that is used to sequence
participants at the individual sites. Baylor College of Medicine Human Genome Sequencing Center (HGSC)
and Partners Healthcare with Broad Institute (the two sequencing centers) worked with the Clinical
Annotation Workgroup and the Network sites to identify and validate an impactful set of genes and single
nucleotide variants (SNVs) that allow for clinically actionable, pathogenic variants to be returned
while providing researchers with the data needed to aid in genomic discovery. This resulted in a panel
consisting of 109 genes and 1,551 SNVs.